Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fifteen cases of congenital complete heart block were diagnosed in utero or at birth, over a nine-year period. Six cases were confirmed by fetal echocardiography between 22 and 36 weeks of gestation. Two cases were treated in utero for cardiac failure, and serial ultrasonography was used to monitor the progress. Structural heart disease was present in seven (47%) infants; in four of these infants the defect was a corrected transposition of the great arteries. Ventricular pacing was required in seven patients--four infants with anatomically-normal hearts and three infants with associated structural heart disease. Eight children did not require permanent pacing, and remained well after a mean follow-up period of 23 months (range, one to 72 months). The mortality was highest in those patients with structural heart disease, three of whom died as neonates. Only one baby died with an anatomically-normal heart. Antinuclear antibodies were present in the mothers of seven of the eight infants who were born with a structurally-normal heart. Four mothers either had pre-existing connective-tissue disease or had developed manifestations of such disease subsequent to pregnancy. Of this group, all the women were antibody-seropositive to the nuclear antigen SS-A during pregnancy. Mothers of three infants had antinuclear antibodies in low titres, were seronegative for antibody to SS-A and remained free of the manifestations of connective-tissue disease. Six of the seven most-recent cases have been diagnosed in utero, which confirms a trend towards the more-frequent prenatal diagnosis of congenital heart disease as a result of the increased use of fetal monitoring and ultrasonography.
 ...
PMID:Fetal and neonatal congenital complete heart block. 265 84

One of the rare examples of the transfer of autoimmune disease from mother to (unborn) child is the neonatal lupus syndrome. This syndrome comprises the development of fetal heart disease (congenital heart block) or neonatal skin rash and is specifically associated with maternal anti-Ro/SS-A autoantibodies. Previous studies have suggested that especially maternal autoantibody reactivity against the 52 kDa protein of the Ro/SS-A antigen and/or against the La/SS-B antigen is responsible for the development of congenital heart block (CHB). To determine the CHB-associated antibody response in more detail, we analysed the presence of autoantibodies in sera from mothers of children with isolated heart block. All 14 mothers of children with congenital heart block were positive for anti-Ro/SS-A antibodies. Remarkably, their antibody profile, including recognition of different Ro/SS-A proteins and autoantibody levels against these proteins, did not differ from anti-Ro/SS-A positive mothers of healthy children. In contrast, all 8 anti-Ro/SS-A negative mothers had children with acquired heart block. We conclude from our data that maternal anti-Ro/SS-A antibodies are essential for CHB but that fine analysis of this autoantibody response does not predict the occurrence of CHB.
 ...
PMID:Maternal autoantibodies and congenital heart block: no evidence for the existence of a unique heart block-associated anti-Ro/SS-A autoantibody profile. 750 95

The increased awareness of fetal arrhythmias by obstetricians and the development of sophisticated fetal echocardiography have established the basis for identification and treatment of these arrhythmias. The development of fetal hydrops is a recognized link to the severity of the arrhythmia. Fetal tachycardias have been diagnosed relatively early in gestation. They may be differentiated into sinus tachycardia, supraventricular tachycardia, atrial flutter or fibrillation, and ventricular tachycardia. The need for prenatal treatment is widely accepted and various modes of therapy are advocated. Oral maternal antiarrhythmic medication is often used, is considered convenient and safe, and provides adequate conversion. The drugs of choice at various centers have included digoxin, flecainide, amiodarone, and a host of combinations, as well as sotalol, which is gaining popularity. At birth, reentry mechanisms are often documented, with frequent relapses of tachycardia, warranting postpartum continuation of treatment. Fetal bradycardias consist of sinus bradycardia (generally related to obstetric pathology) and atrioventricular block. Atrioventricular block may occur secondary to severe congenital heart disease in the fetus or as an isolated phenomenon. The development of isolated total atrioventricular block has been seen to occur from a gestational age of 18 weeks up to term. It is invariably accompanied by the presence of SS-A and SS-B autoantibodies in the mother. Passage of these antibodies across the placenta causes inflammatory disease of fetal atrioventricular node tissue, resulting in fibrosis and atrioventricular block.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Fetal arrhythmias. 819 75

The importance of managing fetal arrhythmia has increased over the past three decades. Although most fetal arrhythmias are benign, some types cause fetal hydrops and can lead to fetal death. With the aim of improving the outcome in such cases, various studies for prenatal diagnosis and perinatal management have been published. Detailed analysis of the type of arrhythmia in utero is possible using M-mode and Doppler echocardiography. In particular, a simultaneous record of Doppler waveform at the superior venous cava and the ascending aorta has become an important and useful method of assessing the interval between atrial and ventricular contractions. Common causes of fetal tachycardia (ventricular heart rate faster than 180 bpm), are paroxysmal supraventricular tachycardia (SVT) with 1:1 atrioventricular (AV) relation and atrial flutter with 2:1 AV relation. Of fetal SVT, short ventriculo-atrial (VA) interval tachycardia due to atrioventricular reentrant tachycardia is more common than long VA interval. Most fetuses with tachycardia are successfully treated in utero by transplacental administration of antiarrhythmic drugs. Digoxin is widely accepted as a first-line antiarrhythmic drug. Sotalol, flecainide and amiodarone are used as second-line drugs when digoxin fails to achieve conversion to sinus rhythm. Fetal bradycardia is diagnosed when the fetal ventricular heart rate is slower than 100 bpm, mainly due to AV block. Approximately half of all cases are caused by associated congenital heart disease, and the remaining cases that have normal cardiac structure are often caused by maternal SS-A antibody. The efficacy of prenatal treatment for fetal AV block is limited compared with treatment for fetal tachycardia. Beta stimulants and steroids have been reported as effective transplacental treatments for fetal AV block. Perinatal management based on prospective clinical study protocol rather than individual experience is crucial for further improvement of outcome in fetuses with tachycardia and bradycardia.
 ...
PMID:Fetal arrhythmia: prenatal diagnosis and perinatal management. 1975 19

Congenital complete atrioventricular block (CCAVB) is a rare potentially lethal disease with an estimated incidence of 1 every 15.000 to 20.000 live born infants.IN STRUCTURALLY NORMAL HEARTS TWO KINDS OF CONGENITAL HEART BLOCK CAN BE IDENTIFIED: one usually diagnosed in utero associated with the circulating maternal anti-SS-A/Ro and anti-SS-B/La antibodies, the other kind is detected later in the neonatal period or during the infancy or childhood and present no clear relation with maternal antibodies. Nowadays, the diagnosis can be made in utero as early as between week 16 and 28 of gestation by foetal echocardiography.The mortality in isolated CCAVB is estimated between 8 and 16% and between 4 and 8% in children and adults. The mortality and morbidity of patients diagnosed outside the neonatal period is significantly lower than those with a in utero diagnosis.Risk factors for worse outcome in CCAVB are the foetal diagnosis, the presence of hydrops fetalis, delivery at 32 weeks gestation, and a ventricular rate <55 beats/min in early pregnancy (13,18).Aim of this review is to delineate the current knowledge on CCAVB presenting in children without structural heart disease including aetiology, outcome and management. Also outlined in this review are some of the problems still debated in this issue.
 ...
PMID:Congenital complete atrioventricular block in the early pediatric population. 2197 44

Congenital heart block is a rare disorder. It has an incidence of about 1 in 22,000 live births. It may be associated with high mortality and morbidity. This should generate a high index of suspicion for early diagnosis and aggressive therapy when appropriate. The congenital heart block associated with neonatal lupus is considered a form of passively acquired autoimmune disease in which maternal autoantibodies to the intracellular ribonucleoproteins Ro (SS-A) and La (SS-B), cross the placenta and injure the previously normal fetal heart. Women with serum titers of anti-Ro antibody carry a 3% risk of having a child with neonatal lupus syndrome. Recurrence rates are about 18%. We believe that serial echocardiograms should be acquired so that early diagnosis is made and aggressive therapy administered, if signs of conduction system disease such as PR interval prolongation by Doppler are found, so as to optimize the outcome. Establishment of guidelines for therapy have been set empirically, should signs of congenital heart block develop. Those patients whose congenital heart block is associated with structural heart disease have a higher morbidity and mortality, which is determined more by the underlying structural congenital heart disease than it is by the need for a pacemaker per se.
 ...
PMID:A review of congenital heart block. 2236 29